A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139317



Internal ID18904933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150332662..150332717hg38UCSC Ensembl
Outerchr4:151253814..151253869hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974823, nssv3957552
SamplesKWS1, KWS2
Known GenesLRBA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139317
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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